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1.
Ann Hematol ; 101(9): 1925-1929, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35779117

RESUMO

The present study aims to evaluate the characteristics and treatment outcomes of adult Langerhans cell histiocytosis (LCH) patients with thyroid involvement. We retrospectively described the clinical, biological, and genomic characteristics of a series of 36 LCH patients with thyroid involvement in our center between January 2001 and December 2021. At the time of diagnosis, only one patient was classified as having single-system LCH, and 35 patients were classified as having multisystem (MS) LCH. Three patients had coexisting papillary thyroid carcinoma. Patients with thyroid gland involvement had higher frequencies of pituitary (88.6% vs. 53.4%, P < 0.001), liver (45.7% vs. 20.7%, P = 0.003), and lymph node (54.3% vs. 31.6%, P = 0.012) involvement and a lower frequency of bone (45.7% vs. 72.0%, P = 0.003) involvement than patients without thyroid gland involvement. Sixteen patients had abnormal thyroid function, including nine patients with primary hypothyroidism, one patient with central hypothyroidism, and six patients with subclinical hypothyroidism. BRAFV600E, BRAF N486_P490, and MAP2K1 mutations were detected in 14.3%, 57.1%, and 7.1% of patients, respectively. After a 43-month median follow-up, none of the patients died, and 15 patients experienced reactivation. The median event-free survival was 37.5 months. Two of 6 patients with subclinical hypothyroidism had normal thyroid function, and 12 patients still had hypothyroidism after treatment. As the largest adult LCH cohort with thyroid gland involvement to date, we found that patients with thyroid gland involvement had different clinical characteristics, genetic profiles, and outcomes than patients without thyroid gland involvement.


Assuntos
Histiocitose de Células de Langerhans , Hipotireoidismo , Adulto , Genômica , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/genética , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Retrospectivos
2.
Ann Hematol ; 101(4): 831-836, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35039900

RESUMO

Idarubicin 12 mg/m2 has been recommended as a standard induction therapy for acute myeloid leukemia (AML). It is unknown whether a higher dose of idarubicin can improve the remission rate. This phase 2 prospective single-arm study enrolled 45 adults with newly diagnosed AML between September 2019 and May 2021 (NCT 04,069,208). Induction therapy included administration of idarubicin 14 mg/m2 for 3 days and cytarabine 100 mg/m2 every 12 h subcutaneously for 7 days. The primary endpoint was the composite complete response rate (complete response (CR) plus complete response with incomplete blood count recovery (CRi)). The median age was 45 years (range 14-60 years). Forty (88.9%) patients had CR or CRi, including 39 patients with CR and 1 patient with CRi after one course of induction therapy. The median times to recovery of absolute neutrophil and platelet counts were 21 days. Only 1 patient died of intracranial hemorrhage during induction therapy. After a median follow-up of 14 months (range 3.5-24 months), the estimated 18-month overall survival and disease-free survival (DFS) were 66.9% and 57.5%, respectively. In conclusion, idarubicin 14 mg/m2 plus cytarabine was a safe and efficient intensive regimen for younger and fit patients with newly diagnosed AML.


Assuntos
Idarubicina , Leucemia Mieloide Aguda , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Citarabina , Humanos , Quimioterapia de Indução , Leucemia Mieloide Aguda/tratamento farmacológico , Pessoa de Meia-Idade , Estudos Prospectivos , Indução de Remissão , Adulto Jovem
3.
Am J Hematol ; 97(2): 203-208, 2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-34797941

RESUMO

Adult Langerhans cell histiocytosis (LCH) remains poorly defined. We retrospectively studied 266 newly diagnosed LCH patients to understand the clinical presentation, treatment, and prognosis of adult LCH. The median age at diagnosis was 32 years (range, 18-79 years). At the time of diagnosis, 40 patients had single lesions within a single system, 18 patients had single pulmonary LCH, 26 patients had multiple lesions within a single system (SS-m), and 182 patients had multisystem disease (MS). The most common organ involved in MS patients was the bone (69.8%), followed by the pituitary (61.5%) and lung (61.0%). BRAFV600E , BRAF deletion, and MAP2K1 mutation were detected in 38.8%, 25.4%, and 19.4% patients, respectively. BRAF deletion was found more common in patients with MS LCH compared to single-system LCH (38.5% vs 7.1%, p = .004), also in patients with liver involvement (69.2% vs 14.3%, p < .001). The estimated 3-year overall survival (OS) and event-free survival (EFS) rates were 94.4% and 54.7%, respectively, in SS-m and MS LCH. Multivariate Cox regression showed that involvement of the liver or spleen at baseline predicted poor EFS and receiving cytarabine-based therapy as a first-line treatment and age older than 30 years at diagnosis predicted favorable EFS. The involvement of risk organs and age older than 50 years predicted poor OS, and receiving cytarabine-based therapy predicted favorable OS. Therefore, BRAF deletion was correlated with MS LCH, particularly those with liver involvement. Liver or spleen involvement at baseline indicates a poor prognosis, and a cytarabine-based regimen could be considered as first-line treatment for adult LCH patients.


Assuntos
Histiocitose de Células de Langerhans/diagnóstico , Adulto , Idoso , Citarabina/uso terapêutico , Feminino , Histiocitose de Células de Langerhans/genética , Histiocitose de Células de Langerhans/terapia , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento , Adulto Jovem
4.
Eur Radiol ; 31(4): 1843-1852, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32965573

RESUMO

OBJECTIVES: To illuminate the prognostic value of ADC (apparent diffusion coefficient), an important quantitative parameter of diffusion-weighted MRI, for multiple myeloma (MM). METHODS: A prospective single-center study which enrolled 114 consecutive newly diagnosed MM patients with baseline whole-body diffusion-weighted MRI (WB DW-MRI) results was conducted. Baseline clinical and MRI parameters were analyzed with univariate and multivariate approaches to identify independent risk factors for progression-free survival (PFS) and overall survival (OS). RESULTS: Five different DW-MRI patterns were seen, and the mean ADC value of the representative background bone marrow was 0.4662 ± 0.1939 × 10-3 mm2/s. After a mean follow-up of 50.2 months (range, 15.7-75.8 months), twenty-four patients died and seven were lost to follow-up. The mean ADC value of the representative background bone marrow was showed to be an independent risk factor for both PFS (HR 4.664; 95% confidence interval (CI) 1.138-19.121; p = 0.032) and OS (HR 14.130; 95% CI 1.544-129.299; p = 0.019). Normal/salt-and-pepper pattern on DW-MRI was associated with PFS using univariate analysis (p = 0.035) but lost the significance with multivariate Cox regression. CONCLUSIONS: Mean ADC value of the representative background bone marrow predicts both PFS and OS which suggests the role of baseline DW-MRI for risk stratification in newly diagnosed MM patients. KEY POINTS: • Whole-body diffusion-weighted MRI (WB DW-MRI) might be helpful to improve the current risk stratification systems for newly diagnosed multiple myeloma (MM). • Morphological parameters as MRI pattern and focal lesion-associated parameters have been reported to be related to survival. However, important functional parameters such as apparent diffusion coefficient (ADC) values were not incorporated into the current risk stratification model. • This study is one of the first endeavors to delineate the correlation of baseline ADC values and survival in MM patients. It is revealed that the mean ADC value of the representative background bone marrow (L3-S1 and iliac bone) was an independent risk factor for both PFS and OS.


Assuntos
Imagem de Difusão por Ressonância Magnética , Mieloma Múltiplo , Medula Óssea/diagnóstico por imagem , Humanos , Mieloma Múltiplo/diagnóstico por imagem , Estudos Prospectivos , Imagem Corporal Total
5.
Ann Hematol ; 99(12): 2801-2809, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32399707

RESUMO

Extranodal natural killer/T cell lymphoma, nasal type (ENKL) is a highly aggressive tumor with relatively poor prognosis. In this prospective study, we investigated the efficacy and toxicity of a novel GDP-ML regimen (combined gemcitabine, cisplatin, dexamethasone, methotrexate, and pegaspargase) as front-line treatment in newly diagnosed ENKL. Eligible newly diagnosed stage I/II ENKL patients received sandwich chemoradiation therapy. Patients with stage III/IV disease received an initial 4 cycles of GDP-ML regimen. After 4 cycles, responding patients continued to receive either autologous transplantation or additional two courses of GDP-ML. A total of 44 patients were enrolled with a median follow-up of 26 months. The overall response rate (ORR) were 78.6% for the whole cohort, 84.6% for stage I/II, and 66.7% for stage III/IV, and corresponding complete remission (CR) rates were 61.9%, 76.9%, and 33.3%. The 1- year and 2- year progression-free survival (PFS) rates were 69.3% and 62.9%, and 1- year and 2-year overall survival (OS) rates were 76.5% and 67.4%, respectively. Patients with stage I/II disease showed better 2-year OS rate compared with stage III/IV patients (88.1% vs. 33.2%, p < 0.001). Patients who achieved CR had significantly better 2-year OS rate compared with non-CR patients (90.8% vs. 24.5%, p < 0.001). The main adverse event was hematologic toxicity. Grade 3/4 neutropenia occurred in 59.1% of patients. These results indicate that GDP-ML is an effective and well-tolerated induction regimen with newly diagnosed ENKL patients. This clinical trial was registered on www.chictr.org.cn (ChiCTR-ONC-12002055).


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Asparaginase/administração & dosagem , Cisplatino/administração & dosagem , Desoxicitidina/análogos & derivados , Linfoma Extranodal de Células T-NK/tratamento farmacológico , Metotrexato/administração & dosagem , Neoplasias Nasais/tratamento farmacológico , Polietilenoglicóis/administração & dosagem , Adulto , Idoso , Desoxicitidina/administração & dosagem , Feminino , Seguimentos , Humanos , Linfoma Extranodal de Células T-NK/diagnóstico por imagem , Linfoma Extranodal de Células T-NK/mortalidade , Masculino , Pessoa de Meia-Idade , Neoplasias Nasais/diagnóstico por imagem , Neoplasias Nasais/mortalidade , Estudos Prospectivos , Taxa de Sobrevida/tendências , Adulto Jovem , Gencitabina
6.
Ann Hematol ; 98(1): 143-150, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30209556

RESUMO

Peripheral T cell lymphomas (PTCL) are less responsive to anthracycline-containing regimen such as CHOP and carry a poor prognosis. In this prospective study, we investigated gemcitabine, cisplatin, and dexamethasone (GDP) combined with methotrexate (MTX) and pegaspargase (PEG-L) as front-line treatment in PTCL. Eligible newly diagnosed PTCL patients received 4 cycles of the GDP-ML chemotherapy every 28 days. After 4 cycles, responding patients continued to receive either autologous stem cell transplantation or the MTX/cytarabine (MA) regimen for consolidation. This trial is registered with www.chictr.org.cn (ChiCTR-ONC-12002055). A total of 65 patients were enrolled with a median follow-up of 38.5 months. The overall response rate (ORR) was 55.4%, and complete remission rate (CR) was 33.8%. The median overall survival (OS) was 16 months, and the 1-year and 2-year OS were 59.1% and 38.2%, respectively. The median PFS was only 8 months. The main adverse event was hematologic toxicity: 50% patients showed grade III/IV neutropenia. GDP-ML for the first-line treatment of PTCL patients is an effective induction regimen compared with standard CHOP, and the toxicity was more significant but acceptable. However, future studies exploring new drug combinations are warranted to overcome relapse after remission. ClinicalTrials.gov Identifier: NCT02987244.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Linfoma de Células T Periférico/tratamento farmacológico , Linfoma de Células T Periférico/mortalidade , Adolescente , Adulto , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Asparaginase/administração & dosagem , Asparaginase/efeitos adversos , China/epidemiologia , Cisplatino/administração & dosagem , Cisplatino/efeitos adversos , Desoxicitidina/administração & dosagem , Desoxicitidina/efeitos adversos , Desoxicitidina/análogos & derivados , Dexametasona/administração & dosagem , Dexametasona/efeitos adversos , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Linfoma de Células T Periférico/patologia , Masculino , Metotrexato/administração & dosagem , Metotrexato/efeitos adversos , Pessoa de Meia-Idade , Polietilenoglicóis/administração & dosagem , Polietilenoglicóis/efeitos adversos , Taxa de Sobrevida , Gencitabina
7.
Ann Hematol ; 98(2): 445-455, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30370485

RESUMO

The incidence and clinical implications of autoimmune diseases (ADs) in patients with non-Hodgkin's lymphoma(NHL) remain unclear. The aim of this study was to examine the prevalence of ADs in NHL and define the clinical characteristics and prognosis of AD-associated NHL patients. Patients diagnosed with NHL in our institute between 1995 and 2017 were retrospectively reviewed to assess the incidence of ADs. Of 4880 patients with NHL, 140 (2.9%) presented with autoimmunity, with a total of 24 ADs. The most common AD was Sjögren syndrome, followed by autoimmune cytopenia, psoriasis, rheumatoid arthritis, etc. Psoriasis and rheumatoid arthritis were significantly associated with pre-existing ADs, whereas autoimmune cytopenia was significantly associated with secondary AD. Sjögren syndrome was significantly associated with B-cell lymphoma, and systemic vasculitis was significantly associated with T-cell lymphoma. Patients with AD-associated NHL had a high frequency of extranodal involvement(87%), with significant associations between specific extranodal sites of lymphoma and subtypes of ADs. Among patients with available data on pre-treatment peripheral blood Epstein-Barr virus (EBV) DNA(n = 68), elevated EBV-DNA load was observed in a variety of NHL subtypes, including 20% of marginal zone lymphoma and 14.3% of follicular lymphoma patients. In a matched-pair analysis, survival did not differ significantly between NHL patients with and without ADs. However, for NHL patients with pre-existing ADs, a prior history of systemic corticosteroids therapy was significantly associated with worse survival (HR = 7.33, P = 0.006). Taken together, our data suggest that a broad spectrum of ADs is associated with NHL, and AD-associated NHL has distinct features with regard to clinical manifestations and prognosis.


Assuntos
Doenças Autoimunes/mortalidade , Linfoma de Zona Marginal Tipo Células B/mortalidade , Linfoma Folicular/mortalidade , Adolescente , Corticosteroides/administração & dosagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Autoimunes/tratamento farmacológico , China/epidemiologia , Intervalo Livre de Doença , Feminino , Humanos , Linfoma de Zona Marginal Tipo Células B/tratamento farmacológico , Linfoma Folicular/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Taxa de Sobrevida
8.
Ann Hematol ; 96(4): 581-587, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28084534

RESUMO

The influence of chronic hepatitis B virus (HBV) infection on the efficacy of intensive immunosuppressive treatment (IST) of severe aplastic anaemia (SAA) patients remains unclear. Previous reports on this topic have been mostly case reports or have had a relatively short follow-up. Eight SAA patients carrying chronic HBV infection and 24 matched patients without HBV at a ratio of 1:3 were included in this retrospective analysis. The patients were treated with anti-thymocyte globulin (ATG) and cyclosporine A. Entecavir was or was not administered throughout the IST course to patients with positive or negative HBV-DNA results, respectively. No evident HBV reactivation developed. The overall response was 87.5% by 12 months, and the recurrence rate was 12.5%. There were no significant differences in overall response, overall survival and event-free survival between groups. Entecavir can effectively prevent reactivation of HBV in SAA patients with positive HBV-DNA who received intensive IST. Regular surveillance may be sufficient for HBV-DNA negative patients who should receive antiviral drugs immediately when their HBV-DNA status changes from negative to positive. The prognosis of SAA patients with chronic HBV infection after intensive IST treatment is not worse than those without HBV infection.


Assuntos
Anemia Aplástica/tratamento farmacológico , Soro Antilinfocitário/administração & dosagem , Ciclosporina/administração & dosagem , Hepatite B Crônica/tratamento farmacológico , Imunossupressores/administração & dosagem , Índice de Gravidade de Doença , Adolescente , Adulto , Anemia Aplástica/diagnóstico , Anemia Aplástica/epidemiologia , Quimioterapia Combinada , Feminino , Seguimentos , Hepatite B Crônica/diagnóstico , Hepatite B Crônica/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
9.
Acta Haematol ; 137(4): 240-246, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28586777

RESUMO

BACKGROUND: We reviewed patients with fever of unknown origin (FUO) and splenomegaly and assessed the diagnostic value of splenectomy and measured risk factors suggestive of an underlying lymphoma. METHODS: FUO patients (n = 83) who had splenomegaly and underwent splenectomy were enrolled into this retrospective single-center study. Clinical presentations were documented and risk factors suggestive of an underlying lymphoma were tested. RESULTS: Seventy-four patients (89.2%) had a diagnosis of lymphoma or not after splenectomy and follow-up. Of those (55.4%) diagnosed with lymphoma, 29 had B-cell non-Hodgkin lymphoma and 12 had T-cell non-Hodgkin lymphoma. The remaining 33 (44.6%) had diseases other than lymphoma. Using multivariate logistic analysis, the following 3 independent risk factors were found to be related to a final diagnosis of lymphoma: age (continuous) (HR 1.086; 95% CI 1.033-1.141; p = 0.001), massively enlarged spleen (HR 7.797; 95% CI 1.267-47.959; p = 0.027), and enlarged intra-abdominal lymph nodes (HR 63.925; 95% CI 7.962-513.219; p < 0.001). The calibration of the model was satisfactory (p = 0.248 using the Hosmer-Lemeshow test), and the discrimination power was good (area under the receiver operating characteristic curve 0.925; 95% CI 0.863-0.987). CONCLUSIONS: Splenectomy is an effective diagnostic procedure for patients with FUO and splenomegaly and lymphoma is a common cause. Older age, a massively enlarged spleen, and enlarged intra-abdominal lymph nodes are risk factors suggesting an underlying lymphoma, and surgery for high-risk patients should be considered.


Assuntos
Febre de Causa Desconhecida/complicações , Linfoma/complicações , Linfoma/diagnóstico , Esplenectomia , Esplenomegalia/complicações , Esplenomegalia/cirurgia , Adolescente , Adulto , Fatores Etários , Idoso , Feminino , Febre de Causa Desconhecida/etiologia , Humanos , Linfonodos/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Esplenomegalia/etiologia , Adulto Jovem
10.
J Infect Chemother ; 23(6): 360-367, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28341518

RESUMO

BACKGROUND: Invasive fungal disease (IFD) is a major complication of acute leukemia, thus primary antifungal prophylaxis (PAP) is recommended by guidelines. Nevertheless, guidelines might not be commonly followed in developing countries due to economic factors. The primary objectives were to evaluate the implementation rate of PAP in acute leukemia patients in China and to compare the prognosis of IFD with and without PAP. The secondary objectives were to investigate the safety of PAP, clinical characteristics of IFDs and risk factors of breakthrough. METHODS: This was a retrospective observational single-center study, including non-M3 acute myeloid leukemia (AML) and acute lymphocytic leukemia (ALL) patients receiving uniform induction or salvage chemotherapy between 2012 and 2016. RESULTS: There were 29.4% of patients without PAP among a total of 248 cases. The incidence of breakthrough proven/probable/possible IFDs was 24.7%, 6.5%, 5.5%, 5.4% and 5.3% in control (no prophylaxis), fluconazole, itraconazole, voriconazole and posaconazole group respectively (P = 0.007), while the percentage of patients requiring empirical or pre-emptive therapy was 54.8%, 45.7%, 23.3%, 18.9%, 10.5% respectively (P < 0.001). PAP could also significantly improve IFD-free survival (P < 0.001) and reduce 90-day overall mortality in patients on AML salvage regimen (P = 0.021). There were no statistical differences in PAP-related adverse events. Past history of IFD (OR 9.5, P = 0.006) was confirmed to be independent risk factors. CONCLUSIONS: There are a considerable number of acute leukemia patients without PAP in China, who have higher IFD incidence, increased empiric/pre-emptive antifungal drug use and worse IFD-free survival.


Assuntos
Antibioticoprofilaxia/estatística & dados numéricos , Antifúngicos/administração & dosagem , Infecções Fúngicas Invasivas/tratamento farmacológico , Infecções Fúngicas Invasivas/epidemiologia , Leucemia Mieloide Aguda/complicações , Adolescente , Adulto , Idoso , Antifúngicos/uso terapêutico , Azóis/administração & dosagem , Azóis/uso terapêutico , Intervalo Livre de Doença , Feminino , Humanos , Quimioterapia de Indução , Infecções Fúngicas Invasivas/complicações , Infecções Fúngicas Invasivas/prevenção & controle , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Terapia de Salvação , Adulto Jovem
11.
Eur J Haematol ; 96(3): 291-6, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25996247

RESUMO

Immunosuppressive therapy with antithymocyte immunoglobulin (ATG) and cyclosporine A is the first treatment option for severe aplastic anemia (SAA) patients without transplantation. Horse ATG is not marketed in China. Because the price of porcine ATG (pATG) is only about one-third of the price of rabbit ATG (rATG), long-term follow-up studies of pATG's efficacy will help provide valuable insights into the treatment of SAA. Retrospective studies were performed to analyze the clinical information of 102 SAA patients treated with pATG and cyclosporine A from 1999 to 2014 in Peking Union Medical College Hospital. The median age was 29 years old (range 12-72). Median follow-up time was 59.6 months (0.2-176.8). The overall response rate was 74.5% (CR 42.1%, PR 32.4%). The recurrence rate was 9.9%. The mortality rate was 16.7%. The median survival time has not been reached, and the 5-year survival rate was 81.8%. Other hematologic abnormalities were observed in 7.8% of patients, including symptomatic PNH, MDS, and AML. Multivariate analysis revealed there was no significant effect on survival by factors such as gender, age, severity of disease, treatment time, and PNH clone (P > 0.05). These data have indicated pATG therapy combined with cyclosporine A has significant long-term efficacy and high overall survival in SAA.


Assuntos
Anemia Aplástica/tratamento farmacológico , Soro Antilinfocitário/uso terapêutico , Ciclosporina/uso terapêutico , Imunossupressores/uso terapêutico , Adolescente , Adulto , Idoso , Anemia Aplástica/diagnóstico , Anemia Aplástica/mortalidade , Animais , Soro Antilinfocitário/efeitos adversos , Criança , Evolução Clonal , Quimioterapia Combinada , Feminino , Seguimentos , Humanos , Imunossupressores/efeitos adversos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Razão de Chances , Recidiva , Índice de Gravidade de Doença , Suínos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
14.
Am J Hematol ; 95(4): E80-E83, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31925808
15.
Zhonghua Bing Li Xue Za Zhi ; 43(12): 809-13, 2014 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-25623977

RESUMO

OBJECTIVE: To explore the clinicopathologic features, immunophenotype, differential diagnosis and gene mutation status of the Erdheim-Chester disease (ECD). METHODS: Clinical and pathologic findings of 3 ECD cases were examined by gross, microscopic, immunohistochemical methods and BRAF V600E mutation. Related literatures were reviewed. RESULTS: Two male patients and one female patient presented clinically with multiple skin nodules, bone pain and bony lesions by imaging study. Microscopically, the lesions were composed of spindle-shaped fibroblasts, foamy histiocytes and scattered Touton-type giant cells embedded in reactive fibrous tissue. Lymphocytes, plasma cells, and multinucleated giant cells were also found. Immunohistochemically, all histiocytes were positive for CD68, none of which expressed CD1a, although 2 cases focally expressed weak S-100 stain. In 2 cases,BRAF V600E mutation was detected. CONCLUSIONS: ECD is a rare disease of xanthogranulomatous histiocytosis.Its diagnosis relies on pathological and immunohistochemical findings, but correlation with clinical information, especially radiographic findings should be performed.No effective treatment of the disease is currently available.


Assuntos
Antígenos CD/análise , Antígenos de Diferenciação Mielomonocítica/análise , Doença de Erdheim-Chester , Mutação , Antígenos CD1/análise , Diagnóstico Diferencial , Doença de Erdheim-Chester/genética , Doença de Erdheim-Chester/imunologia , Doença de Erdheim-Chester/patologia , Feminino , Humanos , Masculino , Proteínas S100/análise , Resultado do Tratamento
17.
Zhonghua Nei Ke Za Zhi ; 52(3): 192-6, 2013 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-23856108

RESUMO

OBJECTIVE: To study the clinical characteristics of Hennekam syndrome. METHODS: We described a case of long-term iron deficiency anemia, characteristic facial anomalies, growth retardation, and intestinal lymphangiectasia. To our knowledge, this is the first case of Hennekam syndrome reported in China. Meanwhile, relevant literature was also reviewed. RESULTS: A total of 35 cases of Hennekam syndrome were identified, consisting of 18 males and 17 females (age ranging 0 - 40 years old). Lymphangiectasia, lymphedema, facial anomalies (hypertelorism, flat nasal bridge and flat face) and developmental retardation were the major clinical manifestations of the syndrome. CCBE1 mutation may have played an important role in the pathogenesis of the syndrome. Long-term moderate-to-severe iron deficiency anemia was a distinctive feature of our case. Lymphangiography revealed lymphangiectasia of small intestine and lower limb, as well as thoracic outlet obstruction. Complete elimination of anemia and significant increase of serum albumin level were observed several months after the adhesiolysis procedure of the distal end of thoracic duct. However, anemia and severe hypoalbuminemia relapsed after taking greasy food. CONCLUSIONS: Hennekam syndrome is a rare autosomal recessive syndrome characterized by defective lymphatic development. Congenital lymphangiectasia should be considered in the patients with unexplained developmental retardation and hypoalbuminemia. Moreover, intestinal lymphangiectasia can be a rare cause of gastrointestinal bleeding.


Assuntos
Anormalidades Craniofaciais , Doenças dos Genitais Masculinos , Linfangiectasia Intestinal , Linfedema , Feminino , Humanos , Adulto Jovem
18.
Orphanet J Rare Dis ; 18(1): 372, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38037140

RESUMO

BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site of involvement. There is a paucity of studies examining unifocal LCH in adults in the molecular era. RESULTS: We retrospectively analysed records from 70 patients with unifocal LCH. The median age at diagnosis was 36 years (18-69). The most common organ involved was the bone (70.0%), followed by pituitary gland (7.1%). Target gene sequencing of lesion tissues was performed on 32 of the 70 patients. MAPK/PI3K pathway alterations were observed in 78.1% of the patients; the most common mutations included BRAFV600E (28.1%), MAP2K1 (18.8%) and PIK3CA (9.4%). After a median follow-up time of 39.4 months (0.7-211.8), 10 (14.3%) patients developed disease progression, of whom 4 had local recurrence, 2 progressed to single-system multifocal and 4 progressed to multiple system LCH. The 3-year progression-free survival (PFS) was 81.9%. Univariate analysis showed that age < 30 years at diagnosis was associated with worse 3-year PFS (52.2% vs. 97.0%, p = 0.005). The 3-year overall survival was 100%. CONCLUSIONS: In our large cohort of adults with unifocal LCH, we found that prognosis of unifocal LCH in adults was very good, and age < 30 years at diagnosis was associated with increased relapse risk.


Assuntos
Histiocitose de Células de Langerhans , Fosfatidilinositol 3-Quinases , Humanos , Adulto , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Histiocitose de Células de Langerhans/genética , Progressão da Doença , Genômica
19.
Res Pract Thromb Haemost ; 7(5): 100192, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37601010

RESUMO

Background: Multiple trials have confirmed that romiplostim could increase platelet count in individuals with primary immune thrombocytopenia (ITP), but no related study has assessed Chinese patients. Objectives: To assess the effectiveness of romiplostim as a second-line treatment of persistent or chronic ITP in Chinese adults. Methods: This phase III multicenter, randomized, placebo-controlled, double-blind, then open-label clinical trial (NCT02868099, CTR20150395) was conducted at 28 investigational sites in China. The patients were randomly assigned (3:1) to romiplostim (starting and maximum doses of 1 and 10 µg/kg, respectively) or placebo for 9 weeks (double-blind period), followed by the open-label period (both groups administered romiplostim) to week 22. The primary endpoint was the time (in weeks) during which platelet counts were ≥50 × 109/L in the double-blind period. Results: In this study, 202 patients (romiplostim, n = 151; placebo, n = 51) started the treatment. The median (range) numbers of weeks with platelet response after 6 weeks of treatment were 2 (0-6) and 0 (0-2) in patients administered romiplostim and placebo, respectively (P < .001). During the double-blind period, the proportions of patients with treatment-emergent adverse events were comparable between the romiplostim and placebo groups (82.8% vs 82.4%). The treatment-emergent adverse event with ≥10% difference in incidence between these 2 groups was injection site bleeding (1.3% vs 11.8%). Conclusion: Romiplostim significantly increased the time with maintained platelet response in patients with persistent or chronic ITP in comparison with placebo. No new safety signal was observed. Trial registration: ClinicalTrials.gov, NCT02868099. www.chinadrugtrials.org.cn/clinicaltrials.searchlist.dhtml, CTR20150395.

20.
Oxid Med Cell Longev ; 2022: 2238985, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36193080

RESUMO

Background: D-dimer (DD) has been indicated as a potential indicator due to its connection with the prognosis of the COVID-19 pandemic. Aging is linked to elevated DD levels in coagulation activation. However, few studies have investigated the correlation of DD with prognosis, especially in the old population. Therefore, this study aims at investigating the correlation of DD with prognosis in shock and perioperative populations over 65 years of age. Methods: We analyzed 9261 old patients admitted to intensive care units (ICUs) with either confirmed shock or in perioperative period of high-risk surgery, with 8813 of them had DD levels determined on admission. In-hospital mortality, length of ICU stay and ventilation time (VT) associated variables were assessed using generalized linear models. Results: Although DD levels had no positive correlations with in-hospital mortality (RR, 1.006; 95% CI, 0.998-1.014) and length of ICU stay (RR, 1.012; 95% CI, 0.997-1.028) in Model 3, they were strongly correlated with VT (RR, 1.577; 95% CI, 1.024-2.064). Higher DD levels in females (RR, 1.804; 95% CI, 1.116-2.602), those who used antibiotics (RR, 1.736; 95% CI, 1.092-2.453), those with surgery (RR, 1.640; 95% CI, 1.273-2.114), and those with shock (RR, 1.740; 95% CI, 1.001-2.687) had stronger correlation with longer VT than the counterparts. While patients who were between 65 and 74 years old (RR, 1.023; 95% CI, 1.003-1.043), with no use of antibiotics (RR, 1.007; 95% CI, 1.001-1.013) nor shock (RR, 1.011; 95% CI, 1.002-1.021), but had undergone surgical procedures (RR, 1.030; 95% CI, 1.012-1.048) were correlated with a longer ICU length of stay. Conclusion: DD levels at ICU admission are highly related to increased VT and length of ICU stay in the old population with either confirmed shock or after high-risk surgery, indicating the strong potential of DD as a marker with prognostic utility for all ICU patients in the future.


Assuntos
COVID-19 , Choque , Idoso , Antibacterianos , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio , Humanos , Unidades de Terapia Intensiva , Tempo de Internação , Pandemias , Estudos Retrospectivos
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